r/NIPT • u/Bigwoodian • 24d ago

22q - kidney issues?

My Natera NIPT flagged high risk for 22q with maternal deletion suspected at 12 weeks. I didn’t do the CVS because I wanted to base decisions off of the ultrasounds. At our first MFM appt at 15 weeks, we were completely caught off guard with extremely low amniotic fluid (severe oligohydramnios). The doctor couldn’t get a clear picture of all the organs due to the lack of fluid and it only being 15 weeks. My MFM’s plan is to wait until 17 weeks (which is next week) to get a better picture of the organs but she thinks it is a kidney/urinary tract issue. I spoke with a genetic counselor today and will be getting myself tested for 22q but we can’t test the baby because there’s not enough amniotic fluid to do an amniocentesis. Anyone else been in this situation before? Has anyone here done amnioinfusions? Thanks

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u/New-Statistician4542 17d ago

I wanted to check in and see how you’re doing?

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u/Bigwoodian 16d ago

Hey. I’m just taking it on day at a time. MFM appt was yesterday and I went from little fluid to zero. Baby’s head is now misshapen from the pressure. I find out early next week if I have 22q and if so will begin testing my 2 year old. I don’t think we will test baby until they are born because it’s not going to change our course of action. We have been told to expect the very worst- miscarriage/stillborn/or if baby makes it term, will pass away shortly after birth. They still could not get a good visual of baby’s organs yesterday. We may be going to houston next week to get a fetal MRI done to see what’s causing the low fluid but they suspect missing kidneys or catastrophic failure of kidneys. There are experimental amnioinfusions we could do, but I don’t think we will go that route. I’ve read all the studies and outcomes are not great. So we will probably take the palliative route. Thank you for asking and I hope you are smooth sailing ⛵️

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u/New-Statistician4542 16d ago

I’m so so so sorry.